Glut1 Deficiency Syndrome 2 (GLUT1DS2)

Alias:

Dystonia 18

Dyt18

Childhood Onset Glut1 Deficiency Syndrome 2

Ped with or Without Epilepsy and/or Hemolytic Anemia

Paroxysmal Exertion-Induced Dyskinesia

Glut1ds2

Ped

Paroxysmal Exercise-Induced Dyskinesia with or Without Epilepsy and/or Hemolytic Anemia

Paroxysmal Exertion-Induced Dyskinesia with or Without Epilepsy and/or Hemolytic Anemia

Paroxysmal Exertion-Induced Dystonia with or Without Epilepsy and/or Hemolytic Anemia

Paroxysmal Exercise-Induced Dystonia with or Without Epilepsy and/or Hemolytic Anemia

Glut1 Deficiency Syndrome, Type 2, Childhood Onset

Glut1 Deficiency Syndrome 2, Childhood Onset

Paroxysmal Exercise-Induced Dystonia

Dystonia-18

Favorite

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Glut1 Deficiency Syndrome 2, also known as dystonia 18, is related to dystonia, dopa-responsive and movement disease, and has symptoms including action tremor An important gene associated with Glut1 Deficiency Syndrome 2 is SLC2A1 (Solute Carrier Family 2 Member 1). Affiliated tissues include brain and thalamus, and related phenotypes are dystonia and choreoathetosis

Related ID：

MALACARDS：GLT019

OMIM：612126

MESH：D002819